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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
Pfeifer, Mateja ; Rehder, Helga (Corresponding author) ; Gerykova Bujalkova, Maria ; Bartsch, Christine ; Fritz, Barbara ; Knopp, CordulaRWTH* ; Beckers, Björn ; Dohle, Frank ; Meyer-Wittkopf, Matthias ; Axt-Fliedner, Roland ; Beribisky, Alexander V. ; Hofer, Manuel ; Laccone, Franco ; Schoner, Katharina
In
Orphanet journal of rare diseases : OJRD 19(1), Seiten/Artikel-Nr.:114
2024
ImpressumLondon : BioMed Central
Umfang[1]-11
ISSN1750-1172
Online
DOI: 10.1186/s13023-024-03106-z
10.1186/s13023-024-03106-z
DOI: 10.18154/RWTH-CONV-253761
URL: https://publications.rwth-aachen.de/record/1007386/files/1007386.pdf
Einrichtungen
- Institut und Lehrstuhl für Humangenetik und Genommedizin (525000-2)
OpenAccess:
PDF
Dokumenttyp
Journal Article
Format
online
Sprache
English
Anmerkung
Peer reviewed article
Externe Identnummern
SCOPUS: SCOPUS:2-s2.0-85187539051
WOS Core Collection: WOS:001183967300002
PubMed: pmid:38475835
Interne Identnummern
RWTH-CONV-253761
Datensatz-ID: 1007386
Beteiligte Länder
Austria, Germany, Switzerland


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